Medullary Sponge Kidney and Hyperparathyroidism -a Puzzling Association

Maschio, Giuseppe; Tessitore, Nicola; D’Angelo, Angela; Fabris, Antonia; Corgnati, A.; Oldrizzi, Lamberto; Loschiavo, C.; Lupo, Antonio; Valvo, E.; Gammaro, Linda; Rugiu, Carlo

doi:10.1159/000166588

Cited by 27 publications

(12 citation statements)

References 17 publications

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“…In our case, our patient had recurrent renal stones, urinary tract infection, hypokalemia, morning urine pH > 5.5, and acidosis, which were consistent with MSK and dRTA. Hyperparathyroidism is also reportedly associated with a few patients with MSK [ 3 , 6 ], but the exact association between the two diseases is still controversial as both diseases can manifest as kidney stones and excessive urinary calcium excretion. Some scholars believe that hyperparathyroidism is a cause of MSK and triggers nephrolithiasis in these patients [ 6 ], while others believe that MSK could be the primary factor, and parathyroid adenoma might occur secondary to long-term negative calcium balance caused by high urinary calcium [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

“…Thus, some speculated that variants of GDNF and RET genes, which play a key role in kidney and urinary tract development, maybe reasonable candidates for MSK. Hyperparathyroidism is observed in a few patients with MSK, but the exact pathogenesis of this association is unknown [ 3 , 6 ]. In the current study, we present a case of MSK accompanied with tertiary hyperparathyroidism in whom we analyzed the GDNF and RET gene variations, which contributes to further understanding of the pathogenesis of this disease.…”

Section: Introductionmentioning

confidence: 99%

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Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report

et al. 2018

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BackgroundMedullary sponge kidney is a rare renal malformation, which usually manifests as nephrocalcinosis, renal tubular acidosis, and recurrent urinary tract infections. Medullary sponge kidney is often associated with renal developmental anomalies and tumors, and its exact pathogenesis is not yet clearly explained. Given the key role of the interaction of glial cell line-derived neurotrophic factor gene, GDNF, and the “rearranged during transfection” proto-oncogene, RET, in kidney and urinary tract development, variations in these genes are proposed to be candidates for medullary sponge kidney. Hyperparathyroidism is observed in a few patients with medullary sponge kidney, but the exact pathogenesis of this association is unknown. This case report highlights the coexistence of these two conditions associated with RET polymorphism, which contributes toward the understanding of the pathogenesis of medullary sponge kidney.Case presentationA 52-year-old Chinese woman with recurrent renal stones presented to our hospital. Subsequently she was diagnosed as having medullary sponge kidney and tertiary hyperparathyroidism and underwent parathyroidectomy. Genomic DNA was isolated from lymphocytes and the GDNF and RET genes were determined by Sanger sequencing. Two RET polymorphisms were found in our patient, one was nonsynonymous c.2071G>A (G691S; rs1799939) located in exon 11, the other was synonymous c.2712C>G. (p.S904S; rs1800863) located in exon 15.ConclusionsWe demonstrated a case of medullary sponge kidney combined with tertiary hyperparathyroidism, which contributes to further understanding of the pathogenesis of this disease. Besides, we also found RET G691S/S904S polymorphism in this patient, but additional studies are required to explore the role of the RET gene in medullary sponge kidney with hyperparathyroidism.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report

et al. 2018

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“…Although serum calcium levels were well below those indicative of hyperparathyroidism in all our MSK subjects, the opposing serum concentration calcium and phosphate gradi-ents in the different groupings of relatives and the marginally higher PTH levels observed in the probands bring to mind the old notion that MSK patients may have hyperparathyroidism. 11,12 The reasons for such an association are not known. It has been suggested that hyperparathyroidism causes MSK and also triggers stone formation in these patients, 12 but hypercalciuria, nephrocalcinosis, and renal stones clearly precede the onset of hyperparathyroidism by many years in most patients.…”

Section: Discussionmentioning

confidence: 99%

“…11,12 The reasons for such an association are not known. It has been suggested that hyperparathyroidism causes MSK and also triggers stone formation in these patients, 12 but hypercalciuria, nephrocalcinosis, and renal stones clearly precede the onset of hyperparathyroidism by many years in most patients. It has also been claimed that renal hypercalciuria triggers parathyroid gland stimulation, leading to hyperplasia.…”

Section: Discussionmentioning

confidence: 99%

Familial clustering of medullary sponge kidney is autosomal dominant with reduced penetrance and variable expressivity

Fabris

Lupo

Ferraro

et al. 2013

Kidney International

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Medullary sponge kidney (MSK) is a renal malformation typically associated with nephrocalcinosis and recurrent calcium nephrolithiasis. Approximately 12% of recurrent stone formers have MSK, which is generally considered a sporadic disorder. Since its discovery, three pedigrees have been described in which an apparently autosomal dominant inheritance was suggested. Here, family members of 50 patients with MSK were systematically investigated by means of interviews, renal imaging, and biochemical studies in an effort to establish whether MSK is an inheritable disorder. Twenty-seven MSK probands had 59 first- and second-degree relatives of both genders with MSK in all generations. There were progressively lower mean levels of serum calcium, urinary sodium, pH, and volume, combined with higher serum phosphate and potassium from probands to relatives with bilateral, to those with unilateral, and to those unaffected by MSK. This suggests that most affected relatives have a milder form of MSK than the probands, which would explain why they had not been so diagnosed. Thus, our study provides strong evidence that familial clustering of MSK is common, and has an autosomal dominant inheritance, a reduced penetrance, and variable expressivity.

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“…Indeed, Maschio et al [29] have recently provided evidence that precalyceal canalicular ectasias can develop as a conse quence of prolonged hypercalciuria. Our data do not support this contention; however, 2 patients with medul lary sponge kidneys had undergone a series of IVPs over a period of time ranging from 4 to 15 years, and in both cases the typeiai radiological signs were present from the time of the first investigation on.…”

Section: Discussionmentioning

confidence: 99%

Dietary Factors and Medullary Sponge Kidneys as Causes of the So-Called Idiopathic Renal Leak of Calcium

Jaeger¹,

Portmann²,

Ginalski³

et al. 1987

Am J Nephrol

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Out of 89 stone formers with idiopathic hypercalciuria, 51 remained hypercalciuric on a low calcium diet over 5 days: a renal leak of calcium could thus have been suspected in them. Dietary factors such as high sodium or high animal protein intake, and metabolic factors such as obesity with or without hyperinsulinemia, which all might account for the hypercalciuria of these patients, have been evaluated. This evaluation revealed conditions known to be associated with hypercalciuria in 37 of these 51 patients: 15 had hypercalciuria related to a high sodium intake, 7 had severe hyperuricosuria ( > 1 g/24 h) reflecting a high animal protein intake, 20 were obese ( > 120% of ideal weight) with (7 cases) or without (13 cases) concomitant high fasting plasma level of insulin ( > 18 μU/ml). A careful retrospective analysis of the intravenous pyelograms disclosed medullary sponge kidneys in 8 cases which had remained undiagnosed so far. One of them was studied histologically. Only 14 out of 51 patients had an otherwise unexplained hypercalciuria on a low calcium diet. It is concluded that dietary causes appear to play a key role in ‘idiopathic’ hypercalciuria, that the incidence of a primary renal leak of calcium among idiopathic stone formers is much smaller than initially thought, and that this condition can hide unrecognized medullary sponge kidneys.

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Medullary Sponge Kidney and Hyperparathyroidism -a Puzzling Association

Cited by 27 publications

References 17 publications

Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report

Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report

Familial clustering of medullary sponge kidney is autosomal dominant with reduced penetrance and variable expressivity

Dietary Factors and Medullary Sponge Kidneys as Causes of the So-Called Idiopathic Renal Leak of Calcium

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